[Clinical overview of auto-inflammatory diseases]. / Panorama des maladies auto-inflammatoires.

Monogenic auto-inflammatory diseases are characterized by genetic abnormalities coding for proteins involved in innate immunity. They were initially described in mirror with auto-immune diseases because of the absence of circulating autoantibodies. Their main feature is the presence of peripheral blood inflammation in crisis without infection. The best-known auto-inflammatory diseases are mediated by interleukines that consisted in the 4 following diseases familial Mediterranean fever, cryopyrinopathies, TNFRSF1A-related intermittent fever, and mevalonate kinase deficiency. Since 10 years, many other diseases have been discovered, especially thanks to the progress in genetics. In this review, we propose the actual panorama of the main known auto-inflammatory diseases. Some of them are recurrent fevers with crisis and remission; some others evaluate more chronically; some are associated with immunodeficiency. From a physiopathological point of view, we can separate diseases mediated by interleukine-1 and diseases mediated by interferon. Then some polygenic inflammatory diseases will be shortly described: Still disease, Schnitzler syndrome, aseptic abscesses syndrome. The diagnosis of auto-inflammatory disease is largely based on anamnesis, the presence of peripheral inflammation during attacks and genetic analysis, which are more and more performant.

Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy.

OBJECTIVE: Neurofibromatosis type 2 (NF2) affects about one in 25,000 to 40,000 people. Most NF2 patients have private loss-of-function mutations scattered along the NF2 gene. Here, we present our NF2 investigation strategy. MATERIAL AND METHODS: We report a comprehensive NF2 mutation analysis of 221 NF2 French patients: 134 unrelated typical NF2 patients fulfilling the Manchester criteria and 87 unrelated patients presenting symptoms that partially fulfilled the Manchester criteria. RESULTS: A NF2 mutation was identified in 56 of the 221 patients, giving a global mutation detection rate of 25%. This rate reached 37% (49/134) for typical NF2 patients fulfilling the Manchester criteria and only 8% (7/87) for patients presenting symptoms suggestive of NF2. Six of these seven patients were under 25 of age. Our approach showed that 77% of NF2 identified variants were detected by coding exons sequencing. Multiplex ligation-dependent probe amplification allowed the identification of restricted rearrangements (23% of NF2 identified variants corresponding to complete deletion or partial deletion/duplication of NF2). CONCLUSION: High mutation detection rate can be achieved if well phenotyped NF2 patients are studied with multiple complementary and optimized techniques. NF2 somatic mosaicism detection was improved by frozen tumor samples molecular analysis.

Efficacy of tobramycin aerosol in nasal polyposis.

CONTEXT: Treatment of infected nasal polyposis. MATERIAL AND METHODS: Multicenter interventional prospective double-blind randomized study with matched groups: treatment with tobramycin aerosol versus isotonic saline aerosol. The study population included 55 patients: 23 receiving isotonic saline aerosol and 32 receiving tobramycin. A novel device (Easynose®) was used with an original principle limiting pulmonary deposition and ensuring homogeneous peripheral deposition in the nasal cavities. OBJECTIVES: The principal objective was to compare bacteriological eradication between tobramycin 150mg/3ml versus isotonic saline, both administered by nebulization via the Easynose® device. RESULTS AND CONCLUSION: Tobramycin aerosol administered via the Easynose® device showed significantly better bacteriological eradication than isotonic saline.

Contribution of CT scan and CT-guided aspiration in the management of retropharyngeal abscess in children based on a series of 18 cases.

OBJECTIVE: This study was designed to analyse the contribution of CT scan to the management of retropharyngeal abscess in children and the place of CT-guided percutaneous aspiration as an alternative to surgical drainage. MATERIALS AND METHODS: Retrospective study including 18 children with a mean age of 38 months [range: 5-67 months] presenting with retropharyngeal infection between 2006 and 2011. All cases were initially assessed by contrast-enhanced CT scan of the neck. Clinical, radiological treatment and bacteriological data were collected. Radiological results were correlated with surgical and percutaneous aspiration findings (presence or absence of an abscess). RESULTS: The initial CT scan detected 14 abscesses, 3 cases of non-suppurative lymphadenitis and one case of retropharyngeal oedema. One case of non-suppurative lymphadenitis progressed to abscess after failure of antibiotic therapy and was treated surgically. Surgical drainage revealed a purulent collection in 11 cases and no collection in 3 cases. Four CT-guided percutaneous aspirations were successfully performed. Three cases were treated by antibiotics alone (2 cases of lymphadenitis and 1 case of retropharyngeal oedema). Bacteriological examinations revealed the presence of Streptococcus pyogenes in 78.5% of cases. The positive predictive value of the initial CT scan was 78.8% in our series. CONCLUSION: Contrast-enhanced neck CT scan confirmed the diagnosis of retropharyngeal abscess and the indication for surgical drainage. It must be performed urgently, on admission. When it is decided to treat the patient with antibiotics alone, follow-up imaging should be performed in the absence of improvement 24 to 48 hours after starting antibiotics. CT-guided percutaneous aspiration is both a diagnostic modality confirming abscess formation of an inflammatory lesion of the retropharyngeal space as well as a therapeutic tool, sometimes avoiding the need for surgical drainage.

[Balloon catheter dilatation for frontal sinus ostium stenosis: surgical technique and preliminary report]. / Technique de dilatation ostiale par ballonnet ("balloon Sinuplasty") dans les obstructions du canal naso-frontal: expérience préliminaire et notes techniques.

OBJECTIVES: To report early clinical experience with balloon dilation of the frontal recess ("Balloon Sinuplasty"), to describe surgical technique, to assess its feasibility and effectiveness. MATERIAL AND METHODS: This prospective, multiinstitutional case series describes all patients who underwent balloon sinuplasty for frontal sinus ostium stenosis from May 2011 to December 2011. RESULTS: Eight adult patients underwent a total of 11 frontal balloon sinuplasty in the clinical setting. The mean age was 46 +/- 12. All procedures were performed under general anesthesia. No complications occurred. Six of the eight patients were deemed cured with a follow-up range of 1-7 months. For 2 patients the procedure was unsuccessful. CONCLUSIONS: Balloon dilatation of the frontal recess is a safe and feasible technique with a comparable efficacy to conventional surgical treatment modalities. There is a need for randomised controlled trials and cost-effectiveness studies.

Malignant lacrimal sac tumors.

OBJECTIVES: Lacrimal sac tumors are usually primary and of epithelial origin. Overall, 55% of lacrimal sac tumors are malignant. Mortality rates for malignant tumors depend on tumor stage and type, with a mean rate of 38%. The main objective of this study was to review our experience with these malignancies and to compare this with the published literature. PATIENTS AND METHODS: A 15-year retrospective review of all malignant lacrimal sac tumor patients was completed in our department. Seven patients were found to have malignant sac tumors. The mean age was 53 years (range, 32-74 years) with six women and one man. The patients' clinical records were reviewed for data regarding patient symptoms, preoperative investigations, pathology reports, treatment results, and outcome. These data were compared with the available literature. RESULTS: All patients presented with epiphora and a palpable lump of the internal canthus. In two cases, a history of recurrent dacryocystitis was noted. The histological types were as follows: squamous cell carcinoma (n=5), one case of adenoid cystic carcinoma, and one case of malignant lymphoma. Surgery was performed in six cases with additional radiotherapy in four. One patient was treated exclusively with external radiotherapy. The mean follow-up was 68 months (range, 6-204 months). Two patients developed recurrences: three were disease-free at the time of the study. CONCLUSIONS: Malignant epithelial lacrimal sac tumors are rare cancers with significant recurrence rates. Correct diagnosis and appropriate therapy require a multidisciplinary management approach. Treatment of these malignant epithelial tumors is first and foremost complete surgical removal with wide excision.

Sinonasal mucosal melanomas.

OBJECTIVES: Sinonasal mucosal melanomas account for approximately 1% of all melanomas. These tumors are particularly aggressive, with a recurrence rate between 37 and 54% and a 5-year survival rate between 20 and 46%. Metastases are frequent. The main objective of this study was to analyze all of our cases of sinonasal mucosal melanomas and determine any prognostic factors. PATIENTS AND METHODS: All our cases of sinonasal mucosal melanoma over a period of 10 years were included. Ten cases were analyzed. The mean age was 71 years (range: 61-85 years) for seven women and three men. The clinical, radiological, anatomopathological, and surgical data as well as the characteristics of disease progression were analyzed. These data were compared to those reported in the literature. RESULTS: The mean follow-up was 36.3 months (range: 2-96 months). The 5-year overall survival was 40%. Seven patients developed local recurrences after a mean follow-up of 16 months (range: 2-27 months) with associated metastases in three cases. Analysis of the prognostic factors showed that tumors classified as T1 and limited to the nasal fossae had a better prognosis. CONCLUSION: Sinonasal mucosal melanomas are rare tumors with a high mortality rate. Treatment of these tumors requires extensive surgical treatment associated with external radiotherapy.

Surgical pitfalls encountered with the semi-implantable middle ear transducer ossicular stimulator (MET-Otologics).

OBJECTIVE: To determine whether surgical pitfalls can be anticipated through a preoperative CT-Scan in case of middle ear implantation with a semi-implantable middle ear ossicular stimulator from Otologics (SIMOS). A second outcome measure was to assess the auditory gain obtained in the series. MATERIALS AND METHODS: A retrospective analysis of 19 consecutive surgical procedure for a SIMOS implantations was achieved. Preoperative Ct-Scans were analyzed and several measurements of the mastoid were taken out from axial transverse views, ie. the distance between the incus and the cortical mastoid bone [d(i-c)], the distance between the sigmoid sinus and the incus [d(i-ss)], the distance between the sigmoid sinus and the cortical bone of the mastoid [d(c'-ss)]. On coronal images, the dura of the middle fossa was described as procident if it was lower than the head of malleus and/or body incus. Auditory gain was calculated on pure tone and speech audiometry with bisyllabic words. RESULTS: All cases were successfully implanted. d(i-c) was on average at 33.1 +/- 2.6 mm in cases easy to implant. One case of contracted mastoid was difficult and led to the impaction of the sigmoid sinus. In this case the distance d(i-c) was shorter at 25 mm than the average minus 2 standard deviations of the others (27.9 mm). Also d(ss-c') was lower at 7 mm than the average minus 2 standard deviations of the others (7.6 mm). Two other cases led to difficult surgical procedures because of a low middle fossa dura. This too low middle fossa dura could be identified on preoperative coronal CT-scans in these two cases. Audiometric gains were remarkable, with an average of 39 +/- 16 dB. In case of severe sensorineural hearing loss the average gain was higher at 46 +/- 9 dB. Two revision-procedures were required, one for a device failure, the second because of skin alteration due to systemic inflammatory disease requiring corticosteroids. Mean follow-up was 50 +/- 22 months. CONCLUSION: The SIMOS is a powerful middle ear implant that can undoubtedly give a huge audiometric gain. The implantation procedure requires a precise microsurgical operation that can be hampered by anatomical conditions of the petrous bone. A thorough examination of preoperative CT-scan is highly recommended in order to obtain measurements of the mastoid in axial views, and the analysis of the position of the middle fossa dura in coronal views.